Mutagenetix > Incidental Mutation

Incidental Mutation 'R7604:Bahd1'

588144

Institutional Source

Beutler Lab

Gene Symbol

Bahd1

Ensembl Gene

ENSMUSG00000040007

Gene Name

bromo adjacent homology domain containing 1

Synonyms

LOC228536

MMRRC Submission

045644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7604 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118730858-118755009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118746791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 137 (T137A)

Ref Sequence

ENSEMBL: ENSMUSP00000043130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036578] [ENSMUST00000151162]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036578
AA Change: T137A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043130
Gene: ENSMUSG00000040007
AA Change: T137A

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	117	141	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
low complexity region	564	579	N/A	INTRINSIC
BAH	616	771	1.17e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151162
AA Change: T137A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118998
Gene: ENSMUSG00000040007
AA Change: T137A

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	117	141	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	T	3: 146,356,415 (GRCm39)	Y164*	probably null	Het
Abce1	G	A	8: 80,426,003 (GRCm39)	T258M	probably benign	Het
Actl7b	G	C	4: 56,740,693 (GRCm39)	P222A	probably benign	Het
Adam2	T	C	14: 66,293,990 (GRCm39)	N279S	probably benign	Het
Adamts13	A	G	2: 26,895,218 (GRCm39)	D1103G	probably benign	Het
Aff1	G	A	5: 103,995,675 (GRCm39)	S1089N	probably benign	Het
Ahcyl2	T	C	6: 29,768,555 (GRCm39)	S7P	unknown	Het
Anks1b	A	G	10: 90,096,708 (GRCm39)		probably null	Het
Azin1	A	C	15: 38,491,878 (GRCm39)	D359E	probably damaging	Het
Bltp1	A	G	3: 37,003,992 (GRCm39)		probably null	Het
C1qbp	A	G	11: 70,869,598 (GRCm39)	S162P	probably damaging	Het
C1rb	A	G	6: 124,557,443 (GRCm39)	M527V	not run	Het
Ccdc88c	A	T	12: 100,896,806 (GRCm39)	D1381E	probably damaging	Het
Ccdc90b	A	G	7: 92,227,738 (GRCm39)	Y234C	probably damaging	Het
Cfap91	C	A	16: 38,118,598 (GRCm39)	E734*	probably null	Het
Cyp11b2	A	T	15: 74,725,599 (GRCm39)		probably null	Het
Dchs1	A	G	7: 105,415,189 (GRCm39)	V665A	probably damaging	Het
Dhx8	T	C	11: 101,655,623 (GRCm39)	S1119P	probably damaging	Het
Dnah6	T	C	6: 73,069,151 (GRCm39)	D2512G	probably damaging	Het
Dnah8	T	C	17: 31,032,069 (GRCm39)	Y4130H	probably damaging	Het
E4f1	G	T	17: 24,674,207 (GRCm39)	A19D	unknown	Het
Eftud2	T	C	11: 102,738,838 (GRCm39)	D517G	possibly damaging	Het
Epha6	T	A	16: 60,026,135 (GRCm39)	I436F	possibly damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ezh1	A	G	11: 101,107,855 (GRCm39)	M74T	probably benign	Het
Galnt14	T	A	17: 73,811,916 (GRCm39)	K435M	possibly damaging	Het
Garin2	C	A	12: 78,761,788 (GRCm39)	Q151K	probably damaging	Het
Gde1	A	T	7: 118,304,759 (GRCm39)	Y39N	possibly damaging	Het
Gldn	G	A	9: 54,245,877 (GRCm39)	R476Q	probably benign	Het
Gm32742	G	T	9: 51,068,062 (GRCm39)	R307S	probably benign	Het
Gnao1	T	G	8: 94,670,972 (GRCm39)	N150K		Het
Gpr135	A	T	12: 72,116,641 (GRCm39)	D375E	possibly damaging	Het
Gria4	A	G	9: 4,464,315 (GRCm39)	M549T	probably damaging	Het
Grik3	C	A	4: 125,517,428 (GRCm39)	D90E	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hspd1	T	C	1: 55,119,496 (GRCm39)	E327G	probably benign	Het
Kif6	T	C	17: 49,978,129 (GRCm39)	I107T	probably damaging	Het
Kmt2e	C	T	5: 23,706,763 (GRCm39)	T1442M	not run	Het
Lama3	C	T	18: 12,633,550 (GRCm39)	H1561Y	possibly damaging	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrrc63	C	A	14: 75,322,409 (GRCm39)	W565L	possibly damaging	Het
Malrd1	A	G	2: 15,930,003 (GRCm39)	N1503S	unknown	Het
Mcm7	C	T	5: 138,167,986 (GRCm39)	V38I	probably benign	Het
Mphosph9	C	T	5: 124,454,180 (GRCm39)	V106I	probably benign	Het
Mroh8	G	T	2: 157,111,484 (GRCm39)	L157I	possibly damaging	Het
Mta2	T	A	19: 8,923,200 (GRCm39)	S91T	probably damaging	Het
Muc5ac	A	T	7: 141,363,446 (GRCm39)	Q2252H	unknown	Het
Ndufs7	G	T	10: 80,089,531 (GRCm39)	V59L	probably benign	Het
Nrxn2	T	C	19: 6,581,991 (GRCm39)	L1642P	probably damaging	Het
Or8k21	G	A	2: 86,145,244 (GRCm39)	P129S	probably damaging	Het
Pbxip1	A	T	3: 89,352,902 (GRCm39)	I183L	probably benign	Het
Peak1	A	T	9: 56,148,491 (GRCm39)	L1085*	probably null	Het
Phf20l1	A	G	15: 66,475,933 (GRCm39)	T189A	probably benign	Het
Poteg	T	A	8: 27,948,683 (GRCm39)		probably null	Het
Proc	G	A	18: 32,267,831 (GRCm39)		probably null	Het
Prr36	G	A	8: 4,264,836 (GRCm39)	R277C	unknown	Het
Ptpn3	T	C	4: 57,240,845 (GRCm39)	N257D	probably damaging	Het
Rnf5	C	A	17: 34,820,638 (GRCm39)	V150L	probably benign	Het
Sbf2	T	A	7: 109,977,274 (GRCm39)	Q666L	possibly damaging	Het
Sdk2	C	T	11: 113,720,795 (GRCm39)	R1378H	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sipa1l2	A	T	8: 126,146,011 (GRCm39)	V1681E	probably benign	Het
Slc15a5	A	T	6: 138,056,784 (GRCm39)	L44Q	probably damaging	Het
Slc29a1	C	A	17: 45,903,250 (GRCm39)		probably null	Het
Slc5a8	G	T	10: 88,740,822 (GRCm39)	V246F	possibly damaging	Het
Spint2	T	C	7: 28,957,944 (GRCm39)	E154G	probably damaging	Het
Sycp1	A	T	3: 102,820,749 (GRCm39)	S413T	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	T	15: 27,736,531 (GRCm39)		probably null	Het
Unc13b	A	G	4: 43,170,102 (GRCm39)	Y310C	unknown	Het
Unc13b	A	G	4: 43,256,776 (GRCm39)	T1155A	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,592 (GRCm39)		probably null	Het
Xpo7	T	A	14: 70,909,110 (GRCm39)	S803C	probably damaging	Het
Zfp747l1	T	C	7: 126,985,707 (GRCm39)	T95A	unknown	Het

Other mutations in Bahd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Bahd1	APN	2	118,747,686 (GRCm39)	missense	probably benign	0.01
IGL02425:Bahd1	APN	2	118,749,645 (GRCm39)	missense	probably benign	0.00
IGL02548:Bahd1	APN	2	118,747,526 (GRCm39)	missense	possibly damaging	0.79
IGL03024:Bahd1	APN	2	118,746,597 (GRCm39)	missense	probably damaging	1.00
R0932:Bahd1	UTSW	2	118,746,408 (GRCm39)	missense	probably damaging	1.00
R1737:Bahd1	UTSW	2	118,746,404 (GRCm39)	missense	probably damaging	1.00
R2845:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R2846:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R2899:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R2900:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R2966:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R2985:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R2986:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R3017:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3018:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3019:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3020:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3021:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3033:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3040:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3431:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R3432:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R3617:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4319:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R4394:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4395:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4418:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4456:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R4462:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R4484:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R5537:Bahd1	UTSW	2	118,746,461 (GRCm39)	missense	probably damaging	0.96
R5556:Bahd1	UTSW	2	118,746,751 (GRCm39)	missense	probably damaging	1.00
R6490:Bahd1	UTSW	2	118,747,619 (GRCm39)	missense	probably benign	0.01
R6736:Bahd1	UTSW	2	118,746,456 (GRCm39)	missense	possibly damaging	0.54
R8516:Bahd1	UTSW	2	118,747,452 (GRCm39)	missense	probably benign	0.03
R8956:Bahd1	UTSW	2	118,749,689 (GRCm39)	missense	probably damaging	1.00
Z1176:Bahd1	UTSW	2	118,752,884 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAAGTGCTGCTGACTCG -3'
(R):5'- TAAGCTAGCCAGTCTCTTGGGAG -3'

Sequencing Primer
(F):5'- TGACTCGCCTGGAAAACGTG -3'
(R):5'- AGCCGGGTCTCCATCTC -3'

Posted On

2019-10-24